FLNB

Filamina B
	; Estructura tridimensional de la proteína FLNB.
Estructuras disponibles
PDB	Buscar ortólogos: PDBe, RCSB Lista de códigos PDB 2di8
Identificadores
Símbolos	FLNB (HGNC: 3755) ABP-278, AOI, DKFZp686A1668, DKFZp686O033, FH1, FLN1L, LRS1, SCT, TABP, TAP, filamin B
Identificadores; externos	OMIM: 603381 ; EBI: FLNB; GeneCards: Gen FLNB; UniProt: FLNB;
Locus	Cr. 3 p14.3
	Referencias: AmiGO / QuickGO
Ortólogos
Humano	Ratón
2317
O75369	n/a
NP_001448	n/a
	v; t; e;
	[editar datos en Wikidata]

La filamina B (FLNB) o proteína de unión a actina 278 es una proteína citoplásmica codificada en humanos por el gen flnB.^[1] Regula la comunicación intracelular y la señalización por entrecruzamiento de la actina para permitir la comunicación directa entre la membrana celular y la red del citoesqueleto, con el fin de controlar y guiar adecuadamente el desarrollo del esqueleto.^[2]

Mutaciones en el gen flnB se han encontrado implicadas en diversos tipos de osteocondrodisplasias, incluyendo displasia boomerang, sinostosis espondilocarpotarsal y atelosteogénesis tipo I.^[3]^[4]^[5]

Interacciones

La proteína FLNB ha demostrado ser capaz de interaccionar con:

Enlaces externos

GeneReview/NIH/UW entry on FLNB-Related Disorders

Referencias

↑ «Entrez Gene: FLNB filamin B, beta (actin binding protein 278)».
↑ Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). «Filamin B mutations cause chondrocyte defects in skeletal development». Hum Mol Genet. 16 (14): 1661-1675. PMID 17510210. doi:10.1093/hmg/ddm114.
↑ Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). «Mutations in FLNB cause boomerang dysplasia». Am J Med Genet. 42 (7): e43. PMID 15994868. doi:10.1136/jmg.2004.029967.
↑ Greally MT, Jewett T, Smith WL Jr., Penick GD, Williamson RA (1993). «Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia». Am J Med Genet. 47 (4): 1086-1091. PMID 8291529. doi:10.1002/ajmg.1320470731.
↑ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). «Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome». Am J Med Genet. 73 (2): 132-138. PMID 9409862. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W.
↑ Takafuta, T; Wu G, Murphy G F, Shapiro S S (Jul. de 1998). «Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha». J. Biol. Chem. (UNITED STATES) 273 (28): 17531-8. ISSN 0021-9258. PMID 9651345.
↑ Sheen, Volney L; Feng Yuanyi, Graham Donna, Takafuta Toshiro, Shapiro Sandor S, Walsh Christopher A (Nov. de 2002). «Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact». Hum. Mol. Genet. (England) 11 (23): 2845-54. ISSN 0964-6906. PMID 12393796.
↑ Takafuta, Toshiro; Saeki Mari, Fujimoto Tetsuro-Takahiro, Fujimura Kingo, Shapiro Sandor S (Apr. de 2003). «A new member of the LIM protein family binds to filamin B and localizes at stress fibers». J. Biol. Chem. (United States) 278 (14): 12175-81. ISSN 0021-9258. PMID 12496242. doi:10.1074/jbc.M209339200.
↑ ^a ^b Zhang, W; Han S W, McKeel D W, Goate A, Wu J Y (Feb. de 1998). «Interaction of presenilins with the filamin family of actin-binding proteins». J. Neurosci. (UNITED STATES) 18 (3): 914-22. ISSN 0270-6474. PMID 9437013.
↑ van der Flier, Arjan; Kuikman Ingrid, Kramer Duco, Geerts Dirk, Kreft Maaike, Takafuta Toshiro, Shapiro Sandor S, Sonnenberg Arnoud (Jan. de 2002). «Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits». J. Cell Biol. (United States) 156 (2): 361-76. ISSN 0021-9525. PMID 11807098. doi:10.1083/jcb.200103037.

Datos: Q17928818

[entrez-1] «Entrez Gene: FLNB filamin B, beta (actin binding protein 278)».

[filb-2] Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). «Filamin B mutations cause chondrocyte defects in skeletal development». Hum Mol Genet. 16 (14): 1661-1675. PMID 17510210. doi:10.1093/hmg/ddm114.

[mutbd-3] Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). «Mutations in FLNB cause boomerang dysplasia». Am J Med Genet. 42 (7): e43. PMID 15994868. doi:10.1136/jmg.2004.029967.

[lbdys-4] Greally MT, Jewett T, Smith WL Jr., Penick GD, Williamson RA (1993). «Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia». Am J Med Genet. 47 (4): 1086-1091. PMID 8291529. doi:10.1002/ajmg.1320470731.

[bddom-5] Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). «Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome». Am J Med Genet. 73 (2): 132-138. PMID 9409862. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W.

[pmid9651345-6] Takafuta, T; Wu G, Murphy G F, Shapiro S S (Jul. de 1998). «Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha». J. Biol. Chem. (UNITED STATES) 273 (28): 17531-8. ISSN 0021-9258. PMID 9651345.

[pmid12393796-7] Sheen, Volney L; Feng Yuanyi, Graham Donna, Takafuta Toshiro, Shapiro Sandor S, Walsh Christopher A (Nov. de 2002). «Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact». Hum. Mol. Genet. (England) 11 (23): 2845-54. ISSN 0964-6906. PMID 12393796.

[pmid12496242-8] Takafuta, Toshiro; Saeki Mari, Fujimoto Tetsuro-Takahiro, Fujimura Kingo, Shapiro Sandor S (Apr. de 2003). «A new member of the LIM protein family binds to filamin B and localizes at stress fibers». J. Biol. Chem. (United States) 278 (14): 12175-81. ISSN 0021-9258. PMID 12496242. doi:10.1074/jbc.M209339200.

[pmid9437013-9] Zhang, W; Han S W, McKeel D W, Goate A, Wu J Y (Feb. de 1998). «Interaction of presenilins with the filamin family of actin-binding proteins». J. Neurosci. (UNITED STATES) 18 (3): 914-22. ISSN 0270-6474. PMID 9437013.

[pmid11807098-10] van der Flier, Arjan; Kuikman Ingrid, Kramer Duco, Geerts Dirk, Kreft Maaike, Takafuta Toshiro, Shapiro Sandor S, Sonnenberg Arnoud (Jan. de 2002). «Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits». J. Cell Biol. (United States) 156 (2): 361-76. ISSN 0021-9525. PMID 11807098. doi:10.1083/jcb.200103037.

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